Full data view for gene CDR1

Information The variants shown are described using the NM_004065.2 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-51G>C r.(=) p.(=) g.139866582C>G Copied from the Exome Variant Server CDR1_000025 1/10540 1/6713 0/3827 - - - - - - -
?/? c.-47A>T r.(=) p.(=) g.139866578T>A Copied from the Exome Variant Server CDR1_000024 3/10545 2/6716 1/3829 - - - - - - -
?/? c.-32_-31del r.(=) p.(=) g.139866562_139866563del Copied from the Exome Variant Server CDR1_000023 4/10190 4/6474 0/3716 - - - - - - -
?/? c.19G>A r.(?) p.(Val7Met) g.139866513C>T Copied from the Exome Variant Server CDR1_000022 4/10561 4/6726 0/3835 - - - - - - -
?/? c.37G>A r.(?) p.(Val13Ile) g.139866495C>T Copied from the Exome Variant Server CDR1_000021 2/10563 2/6728 0/3835 - - - - - - -
?/? c.55A>G r.(?) p.(Ile19Val) g.139866477T>C Copied from the Exome Variant Server CDR1_000020 1080/10563 612/6728 468/3835 - - - - - - -
?/? c.73G>A r.(?) p.(Val25Ile) g.139866459C>T Copied from the Exome Variant Server CDR1_000019 131/10563 7/6728 124/3835 - - - - - - -
?/? c.91_108del r.(?) p.(Val31_Asp36del) g.139866424_139866441del Copied from the Exome Variant Server CDR1_000018 245/10201 40/6480 205/3721 - - - - - - -
?/? c.120G>A r.(=) p.(=) g.139866412C>T Copied from the Exome Variant Server CDR1_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.162C>T r.(=) p.(=) g.139866370G>A Copied from the Exome Variant Server CDR1_000016 18/10563 0/6728 18/3835 - - - - - - -
?/? c.163G>A r.(?) p.(Val55Met) g.139866369C>T Copied from the Exome Variant Server CDR1_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.187T>A r.(?) p.(Phe63Ile) g.139866345A>T Copied from the Exome Variant Server CDR1_000014 1/10561 0/6726 1/3835 - - - - - - -
?/? c.267A>G r.(=) p.(=) g.139866265T>C Copied from the Exome Variant Server CDR1_000013 1/10563 0/6728 1/3835 - - - - - - -
?/? c.308C>T r.(?) p.(Thr103Met) g.139866224G>A Copied from the Exome Variant Server CDR1_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.364G>C r.(?) p.(Asp122His) g.139866168C>G Copied from the Exome Variant Server CDR1_000011 3/10560 0/6725 3/3835 - - - - - - -
?/? c.378C>T r.(=) p.(=) g.139866154G>A Copied from the Exome Variant Server CDR1_000010 2/10560 2/6725 0/3835 - - - - - - -
?/? c.423T>A r.(?) p.(Phe141Leu) g.139866109A>T Copied from the Exome Variant Server CDR1_000009 1/10561 0/6728 1/3833 - - - - - - -
?/? c.451C>T r.(?) p.(Arg151Cys) g.139866081G>A Copied from the Exome Variant Server CDR1_000008 1/10561 1/6728 0/3833 - - - - - - -
?/? c.480C>T r.(=) p.(=) g.139866052G>A Copied from the Exome Variant Server CDR1_000007 2/10561 1/6728 1/3833 - - - - - - -
?/? c.523C>T r.(=) p.(=) g.139866009G>A Copied from the Exome Variant Server CDR1_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.547A>G r.(?) p.(Ile183Val) g.139865985T>C Copied from the Exome Variant Server CDR1_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.524_560del r.(?) p.(Leu175Hisfs*28) g.139865972_139866008del Copied from the Exome Variant Server CDR1_000004 34/10205 19/6484 15/3721 - - - - - - -
?/? c.571T>C r.(?) p.(Trp191Arg) g.139865961A>G Copied from the Exome Variant Server CDR1_000003 2/10563 2/6728 0/3835 - - - - - - -
?/? c.607T>C r.(?) p.(Trp203Arg) g.139865925A>G Copied from the Exome Variant Server CDR1_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.628G>A r.(?) p.(Gly210Arg) g.139865904C>T Copied from the Exome Variant Server CDR1_000001 2/10563 0/6728 2/3835 - - - - - - -
?/? c.670C>T r.(?) p.(Arg224Cys) g.139865862G>A Copied from the Exome Variant Server CDR1_000027 5/10563 1/6728 4/3835 - - - - - - -
?/? c.677T>A r.(?) p.(Phe226Tyr) g.139865855A>T Copied from the Exome Variant Server CDR1_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.760T>A r.(?) p.(Trp254Arg) g.139865772A>T Copied from the Exome Variant Server CDR1_000028 1/10561 1/6726 0/3835 - - - - - - -
?/? c.771G>A r.(=) p.(=) g.139865761C>T Copied from the Exome Variant Server CDR1_000029 1/10563 1/6728 0/3835 - - - - - - -
Legend